Global Variome shared LOVD

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Phenotype #0000155974 Individual ID 00208204 Associated disease VWDP Phenotype details BS 11; multimer profile absent HMW; severe bleeding symptoms, macrothrombocytopenia, mild spontaneous platelet aggregation, positive RIPA 0.3 and 0.4 mg/mL, von Willebrand factor ristocetin cofactor (VWF:RCo) to antigen (VWF:Ag) < 0.2, normal VWF propeptide/VWF:Ag ratio, RIPA mixing tests and cryoprecipitate challenge positive for PT-VWD Diagnosis/Initial pseudo-von Willebrand disease Inheritance Familial, autosomal dominant Diagnosis/Definite VWDP Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein VWF:Ag 47; VWF:Rco 1; FVIII:C 46 Owner name Adriana Ines Woods Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-11-26 19:45:48 +01:00 (CET) Date last edited 2018-12-18 08:50:55 +01:00 (CET)

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